def test_multiple_matches(self):
extract = Extractor(correct_spelling=False,
remove_overlapping=True,
resolve_conflicts=True)
resp = extract.hpo("l pre auricular ear pit.")
self.assertEqual(resp.hpids, ['HP:0004467'])
resp = extract.hpo("Coloboma, microphthalmia, macrocephaly, ear pit.")
self.assertEqual(
set(resp.hpids),
set(['HP:0000589', 'HP:0004467', 'HP:0000568', 'HP:0000256']))
def test_hpo_big_text_max_neighbors(self):
# test parsing a page
extract = Extractor(max_neighbors=1,
correct_spelling=True,
remove_overlapping=False)
hpo_max_2 = extract.hpo(test_case11_text).hpids
extract = Extractor(max_neighbors=3,
correct_spelling=True,
remove_overlapping=False)
hpo_max_3 = extract.hpo(test_case11_text).hpids
self.assertNotEqual(hpo_max_2, hpo_max_3)
def test_remove_overlapping(self):
extract = Extractor(correct_spelling=False, remove_overlapping=False)
resp = extract.hpo("Polycystic kidney disease and myoclonus seizures.")
self.assertEqual(
set(resp.hpids),
set([
'HP:0000113', 'HP:0000112', 'HP:0001250', 'HP:0002123',
'HP:0001336'
]))
extract = Extractor(correct_spelling=False, remove_overlapping=True)
resp = extract.hpo("Polycystic kidney disease and myoclonus seizures.")
self.assertEqual(set(resp.hpids), set(['HP:0002123', 'HP:0000113']))
def test_extract_full_context(self):
extract = Extractor(max_neighbors=2,
correct_spelling=False,
phenotypes_only=False)
resp = extract.hpo("X linked")
self.assertEqual(resp.entries[0]['hpid'][0], 'HP:0001417')
self.assertEqual(resp.entries[0]['type'], 'mode_of_inheritance')
def test_hpo_big_text_spellcheck_off(self):
# test parsing a page
extract = Extractor(max_neighbors=2,
correct_spelling=False,
remove_overlapping=True)
res = extract.hpo(test_case11_text)
self.assertEqual(res.n_entries, 7)
def test_conflict_instantiate(self):
# Test that reinstantiation does not affect results
extract = Extractor(resolve_conflicts=True)
self.assertEqual(extract.resolve_conflicts, True)
res = extract.hpo("ASD")
self.assertEqual(len(res.entries[0]['hpid']), 1)
extract = Extractor(resolve_conflicts=False)
self.assertEqual(extract.resolve_conflicts, False)
res = extract.hpo("ASD")
self.assertEqual(len(res.entries[0]['hpid']), 2)
extract = Extractor(resolve_conflicts=True)
self.assertEqual(extract.resolve_conflicts, True)
res = extract.hpo("ASD")
self.assertEqual(len(res.entries[0]['hpid']), 1)
def test_extract_ambiguous(self):
# test resolver works
extract = Extractor(resolve_conflicts=True)
truth = [{"hpid": ["HP:0001631"], "index": [44, 47], "matched": "ASD"}]
test1 = extract.hpo(
"secundum, all underwent surgical repair for ASD except for 1 individual whose defect spontaneously closed"
)
self.assertEqual(truth, test1.entries_sans_context)
def test_stop_word_phenos(self):
# Test extracting multiple phenotypes with max_neighbors
extract = Extractor(correct_spelling=True, max_neighbors=3)
truth = [{
"hpid": ["HP:0001263"],
"index": [0, 23],
"matched": "developmental and delay"
}]
self.assertEqual(
extract.hpo("developmental and delay").entries_sans_context, truth)
extract = Extractor(correct_spelling=True, max_neighbors=1)
truth = []
self.assertEqual(
extract.hpo("developmental and delay").entries_sans_context, truth)
extract = Extractor(correct_spelling=False)
# Test extracting single phenotype followed by multiword phenotype
truth = [{
"hpid": ["HP:0000750"],
"index": [0, 12],
"matched": "Speech delay"
}, {
"hpid": ["HP:0100710"],
"index": [17, 26],
"matched": "impulsive"
}]
self.assertEqual(
extract.hpo("Speech delay and impulsive").entries_sans_context,
truth)
# Test extracting multiword phenotype followed by single phenotype
truth = [{
"hpid": ["HP:0100710"],
"index": [0, 9],
"matched": "Impulsive"
}, {
"hpid": ["HP:0000750"],
"index": [14, 26],
"matched": "speech delay"
}]
self.assertEqual(
extract.hpo("Impulsive and speech delay").entries_sans_context,
truth)
def test_negated_hpo_retention(self):
extract = Extractor(correct_spelling=False,
remove_overlapping=True,
resolve_conflicts=True,
max_neighbors=2,
phenotypes_only=False,
remove_negated=True)
resp = extract.hpo("Patient has developmental delay but no hypotonia")
self.assertEqual(["HP:0001252"], resp.negated_hpids)
resp = extract.hpo("developmental delay and a wide mouth")
self.assertEqual([], resp.negated_hpids)
resp = extract.hpo("developmental delay with no wide mouth")
self.assertEqual(['HP:0000154'], resp.negated_hpids)
resp = extract.hpo("developmental delay without a wide mouth")
self.assertEqual(['HP:0000154'], resp.negated_hpids)
resp = extract.hpo("no developmental delay, but has a wide mouth")
self.assertEqual(['HP:0001263'], resp.negated_hpids)
resp = extract.hpo(
"the patient has a wide mouth but no developmental delay.")
self.assertEqual(['HP:0001263'], resp.negated_hpids)
resp = extract.hpo(
"the patient does not have either a wide mouth or developmental delay."
)
self.assertEqual(set(['HP:0000154', 'HP:0001263']),
set(resp.negated_hpids))
def test_extract_without_negated(self):
# negation should not apply if negation is part of matched string
extract = Extractor(remove_negated=True)
resp = extract.hpo("the patient presents with absent speech")
self.assertEqual(resp.hpids, ['HP:0001344'])
extract = Extractor()
resp = extract.hpo("developmental delay and a wide mouth")
resp.detect_negation()
self.assertEqual(set(['HP:0000154', 'HP:0001263']), set(resp.hpids))
resp = extract.hpo("developmental delay with no wide mouth")
resp.detect_negation()
resp.remove_negated()
self.assertEqual(['HP:0001263'], resp.hpids)
extract = Extractor(remove_negated=True)
resp = extract.hpo("developmental delay without a wide mouth")
self.assertEqual(['HP:0001263'], resp.hpids)
extract = Extractor(remove_negated=True)
resp = extract.hpo("no developmental delay, but has a wide mouth")
self.assertEqual(['HP:0000154'], resp.hpids)
extract = Extractor(remove_negated=True)
resp = extract.hpo(
"the patient has a wide mouth but no developmental delay.")
self.assertEqual(['HP:0000154'], resp.hpids)
extract = Extractor(remove_negated=True)
resp = extract.hpo(
"the patient does not have either a wide mouth or developmental delay."
)
self.assertEqual([], resp.hpids)
def test_extract_json_property(self):
extract = Extractor(max_neighbors=2)
truth = json.dumps([{
"hpid": ["HP:0000154"],
"index": [16, 26],
"matched": "wide mouth"
}])
resp = extract.hpo("Wide gait and a wide mouth")
self.assertEqual(truth, resp.json)
def test_extract_from_repeated_context(self):
extract = Extractor()
truth = [{
"hpid": ["HP:0000154"],
"index": [16, 26],
"matched": "wide mouth"
}]
resp = extract.hpo("Wide gait and a wide mouth")
self.assertEqual(truth, resp.entries_sans_context)
def test_handling_term_hyphenation(self):
extract = Extractor(correct_spelling=False,
remove_overlapping=True,
resolve_conflicts=True,
max_neighbors=2,
phenotypes_only=False)
hyphenated_phenos = \
[
(hpo_network.nodes()[x]['name'], x) for x in hpo_network.nodes() \
if (
'-' in hpo_network.nodes()[x]['name'] and
',' not in hpo_network.nodes()[x]['name'] and
'.' not in hpo_network.nodes()[x]['name']
)
]
# Phenotypes where word-order is important is a limitation of current parsing method
known_bugs = ['HP:0000510', 'HP:0030932', 'HP:0001215']
long_phenos = [
'HP:0011654', 'HP:0410303', 'HP:0000654', 'HP:0000847',
'HP:0000864', 'HP:0000877', 'HP:0001074'
]
hyphenated_phenos = [
x for x in hyphenated_phenos
if x[1] not in known_bugs + long_phenos
]
hyphenated_phenos = [
x for x in hyphenated_phenos if x[1] not in non_phenos
]
hyphenated_phenos = hyphenated_phenos[:10]
for test in hyphenated_phenos:
# current version is not expected to extract very long phenotypes
hpids = extract.hpo(test[0]).hpids
self.assertEqual(hpids, [test[1]])
# replace hyphens with space
hpids = extract.hpo(test[0].replace('-', ' ')).hpids
self.assertEqual(hpids, [test[1]])
def test_custom_synonyms(self):
# test adding custom synonyms
custom_syn = {
"HP:0001263": ['DD', 'GDD'],
"HP:0000729": ['ASD', 'PDD']
}
extract = Extractor(custom_synonyms=custom_syn)
truth = [{
"hpid": ["HP:0001263"],
"index": [0, 3],
"matched": "GDD"
}, {
"hpid": ["HP:0001263"],
"index": [4, 6],
"matched": "DD"
}]
self.assertEqual(extract.hpo("GDD DD").entries_sans_context, truth)
def test_capitalization_affecting_outcome(self):
extract = Extractor(correct_spelling=False)
resp = extract.hpo("enlarged heart")
self.assertEqual(resp.hpids, ['HP:0001640'])
resp = extract.hpo(" enlarged heart")
self.assertEqual(resp.hpids, ['HP:0001640'])
resp = extract.hpo("Enlarged heart")
self.assertEqual(resp.hpids, ['HP:0001640'])
resp = extract.hpo(" Enlarged heart")
self.assertEqual(resp.hpids, ['HP:0001640'])
resp = extract.hpo("Male with Sotos, enlarged heart")
self.assertEqual(resp.hpids, ['HP:0001640'])
resp = extract.hpo("Myoclonus Seizures")
self.assertEqual(set(resp.hpids), set(['HP:0002123']))
def test_iteration_over_chunks(self):
# test performing multiple extractions in a row
sentences = ['Developmental delay', 'Hypotonia']
extract = Extractor(correct_spelling=False)
for sentence in sentences:
self.assertNotEqual(extract.hpo(sentence).n_entries, 0)
sentences = ['Hypotonia', 'Developmental delay']
for sentence in sentences:
self.assertNotEqual(extract.hpo(sentence).n_entries, 0)
extract = Extractor(correct_spelling=True)
sentences = ['Developmental delay', 'Hypotonia']
for sentence in sentences:
self.assertNotEqual(extract.hpo(sentence).n_entries, 0)
sentences = ['Hypotonia', 'Developmental delay']
for sentence in sentences:
self.assertNotEqual(extract.hpo(sentence).n_entries, 0)
sentences = ['Developmental delay', 'Hypotonia']
for sentence in sentences:
self.assertNotEqual(extract.hpo(sentence).n_entries, 0)
sentences = ['Hypotonia', 'Developmental delay']
for sentence in sentences:
self.assertNotEqual(extract.hpo(sentence).n_entries, 0)
def run_phenoseries_experiment(outdir=None,
phenotypic_series_filepath=None,
min_hpos=2,
min_entities=4,
phenoseries_fraction=1.0,
scoring_method="HRSS",
threads=1,
omim_phenotypes_file=None,
pairwise_mim_scores_file=None):
if outdir is None:
outdir = os.getcwd
# load HPO network
# data directory
phenopy_data_directory = os.path.join(os.getenv("HOME"), ".phenopy/data")
# files used in building the annotated HPO network
obo_file = os.path.join(phenopy_data_directory, "hp.obo")
disease_to_phenotype_file = os.path.join(phenopy_data_directory,
"phenotype.hpoa")
hpo_network, alt2prim, _ = generate_annotated_hpo_network(
obo_file, disease_to_phenotype_file, ages_distribution_file=None)
# read the phenotypic series file as a DataFrame
psdf = pd.read_csv(
phenotypic_series_filepath,
sep="\t",
comment="#",
names=["PS", "MIM", "Phenotype"],
)
# null phenotypes are actually null MIM id fields, so just drop these
psdf = psdf.dropna().sample(frac=phenoseries_fraction, random_state=42)
psdf.reset_index(inplace=True, drop=True)
# create a dictionary for phenotypic series to list of omim ids mapping
ps2mimids = {}
for ps, mim_ids in psdf.groupby(["PS"])["MIM"]:
# more than two mims in a ps
if len(mim_ids) >= 2:
ps2mimids[ps] = list(set([int(mid) for mid in mim_ids.tolist()]))
# invert the ps2mimid dictionary for easy lookup of which ps a mim belongs to
mim2psids = {}
for mim_id, ps in psdf.groupby(["MIM"])["PS"]:
mim2psids[int(mim_id)] = ps.tolist()
fields_to_use = [
"text",
"description",
"otherFeatures",
"biochemicalFeatures",
"diagnosis",
"clinicalFeatures",
]
if omim_phenotypes_file == "":
logger.info("Scraping OMIM Diseases text")
mim_texts = {}
for mim_id in mim2psids:
mim_response = request_mimid_info(mim_id)
try:
mim_info = mim_response.json()
except AttributeError:
break
mim_text = mim_info["omim"]["entryList"][0]["entry"][
"textSectionList"]
all_mim_text = ""
for text_section in mim_text:
section_name = text_section["textSection"]["textSectionName"]
if section_name in fields_to_use:
# unique_section_names.add(section_name)
all_mim_text += " " + text_section["textSection"][
"textSectionContent"]
mim_texts[mim_id] = all_mim_text
# instantiate txt2hpo's Exctractor class to perform named entity recognition
extractor = Extractor(remove_negated=True,
max_neighbors=3,
correct_spelling=False)
# loop over the MIM ids and extract hpo ids from each MIM's text fields
mim_hpos = {}
for mim_id in mim2psids:
mim_hpos[mim_id] = extractor.hpo(mim_texts[mim_id]).hpids
mimdf = pd.DataFrame()
mimdf["omim_id"] = list(mim2psids.keys())
mimdf["hpo_terms"] = mimdf["omim_id"].apply(
lambda mim_id: mim_hpos[mim_id])
mimdf.to_csv(os.path.join(outdir, "omim_phenotypes.txt"),
index=False,
sep='\t')
else:
logger.info("You passed an OMIM disease to phenotype file")
try:
mimdf = pd.read_csv(omim_phenotypes_file, sep="\t")
mimdf["omim_id"] = mimdf["omim_id"].astype(int)
mimdf["hpo_terms"] = mimdf["hpo_terms"].apply(literal_eval)
mim_hpos = dict(zip(mimdf["omim_id"], mimdf["hpo_terms"]))
except FileNotFoundError:
sys.exit("Please provide a valid file path")
# do we need this?
# mim_hpos = {mim_id: hpos for mim_id, hpos in mim_hpos.items()}
# clean up HPO ids in lists
for mim_id, hpo_ids in mim_hpos.items():
mim_hpos[mim_id] = convert_and_filter_hpoids(hpo_ids, hpo_network,
alt2prim)
# remove entities (mims) that have less than min_hpos
mims_to_remove = []
for mim_id, hpo_ids in mim_hpos.copy().items():
if len(hpo_ids) <= min_hpos:
mims_to_remove.append(mim_id)
# Now remove the entities (mim ids) with less than min_hpos
experiment_ps2mimids = {}
# remove these mims from ps
for ps, mimids in ps2mimids.copy().items():
experiment_ps2mimids[ps] = []
for ps_mim_id in mimids:
if ps_mim_id not in mims_to_remove:
experiment_ps2mimids[ps].append(ps_mim_id)
# After removing entities, make sure the series has min number of entities
# get lists of mims and their PS
remove_these_ps = []
for ps, mimids in experiment_ps2mimids.items():
if len(mimids) < min_entities:
remove_these_ps.append(ps)
for psid in remove_these_ps:
del experiment_ps2mimids[psid]
# Create a unique list of entity ids, for scoring later
experiment_omims = set()
for psid, mim_ids in experiment_ps2mimids.items():
for mim in mim_ids:
experiment_omims.add(mim)
experiment_omims = list(experiment_omims)
# make a DataFrame for entity ids
mimdf = pd.DataFrame()
mimdf["omim_id"] = experiment_omims
mimdf["hpo_terms"] = mimdf["omim_id"].apply(
lambda mim_id: mim_hpos[mim_id])
if pairwise_mim_scores_file == "":
scorer = Scorer(hpo_network, scoring_method=scoring_method)
records = [{
"record_id":
mim_id,
"terms":
convert_and_filter_hpoids(hpo_terms, hpo_network, alt2prim),
"weights": {},
} for mim_id, hpo_terms in dict(
zip(mimdf["omim_id"], mimdf["hpo_terms"])).items()]
results = scorer.score_records(records,
records,
half_product(len(records),
len(records)),
threads=threads)
pairwise_scores = pd.DataFrame(
results, columns=["mimid1", "mimid2", "phenopy-score"])
# convert to square form
pairwise_scores = pairwise_scores.set_index(["mimid1",
"mimid2"]).unstack()
# This pandas method chain fills in the missing scores of the square matrix with the values from the transpose of df.
pairwise_scores = (pairwise_scores["phenopy-score"].reset_index(
drop=True).fillna(
pairwise_scores.T.droplevel(0).reset_index(
drop=True)).set_index(pairwise_scores.index, drop=True))
# reindex with the mimdf index
pairwise_scores = pairwise_scores.reindex(mimdf["omim_id"].tolist())
pairwise_scores = pairwise_scores[mimdf["omim_id"].tolist()]
pd.DataFrame(pairwise_scores).to_csv(os.path.join(
outdir, 'phenoseries.psim_matrix.txt'),
sep='\t')
else:
pairwise_scores = pd.read_csv(pairwise_mim_scores_file, sep='\t')
ranksdf = make_rank_dataframe(
pairwise_scores.astype(float).values, mimdf, experiment_ps2mimids)
ranksdf.to_csv(os.path.join(outdir, "phenoseries.rankdf.txt"), sep="\t")
def test_hpo_big_text_spellcheck_on(self):
# test parsing a page
extract = Extractor(max_neighbors=2, remove_overlapping=False)
self.assertEqual(extract.hpo(test_case11_text).n_entries, 12)
def test_hpo(self):
extract = Extractor(correct_spelling=False)
# Test extracting single phenotype
truth = [{
"hpid": ["HP:0001252"],
"index": [0, 9],
"matched": "Hypotonia"
}]
self.assertEqual(extract.hpo("Hypotonia").entries_sans_context, truth)
# Test adding non phenotypic term
truth = [{
"hpid": ["HP:0001252"],
"index": [5, 14],
"matched": "hypotonia"
}]
self.assertEqual(
extract.hpo("Word hypotonia").entries_sans_context, truth)
# Test handling punctuation
truth = [{
"hpid": ["HP:0001252"],
"index": [6, 15],
"matched": "hypotonia"
}]
self.assertEqual(
extract.hpo("Word, hypotonia").entries_sans_context, truth)
# Test extracting a multiword phenotype
truth = [{
"hpid": ["HP:0001263"],
"index": [0, 19],
"matched": "Developmental delay"
}]
self.assertEqual(
extract.hpo("Developmental delay").entries_sans_context, truth)
# Test extracting a multiword phenotype with reversed word order
truth = [{
"hpid": ["HP:0001263"],
"index": [0, 19],
"matched": "Delay developmental"
}]
self.assertEqual(
extract.hpo("Delay developmental").entries_sans_context, truth)
# Test extracting a phenotype with inflectional endings
truth = [{
"hpid": ["HP:0001252"],
"index": [0, 9],
"matched": "Hypotonic"
}]
self.assertEqual(extract.hpo("Hypotonic").entries_sans_context, truth)
# Test extracting a multiword phenotype with inflectional endings and reversed order
truth = [{
"hpid": ["HP:0001263"],
"index": [0, 19],
"matched": "Delayed development"
}]
self.assertEqual(
extract.hpo("Delayed development").entries_sans_context, truth)
# Test extracting multiword phenotype following an unrelated phenotypic term
truth = [{
"hpid": ["HP:0000365"],
"index": [6, 18],
"matched": "hearing loss"
}]
self.assertEqual(
extract.hpo("Delay hearing loss").entries_sans_context, truth)
# Test extracting multiword phenotype preceding an unrelated phenotypic term
truth = [{
"hpid": ["HP:0000365"],
"index": [0, 12],
"matched": "Hearing loss"
}]
self.assertEqual(
extract.hpo("Hearing loss following").entries_sans_context, truth)
# Test extracting two multiword phenotype preceding interrupted by an unrelated phenotypic term
truth = [
{
"hpid": ["HP:0000365"],
"index": [0, 12],
"matched": "Hearing loss"
},
{
"hpid": ["HP:0001263"],
"index": [23, 42],
"matched": "developmental delay"
},
]
self.assertEqual(
extract.hpo("Hearing loss following developmental delay").
entries_sans_context, truth)
# Test spellchecker
extract = Extractor(correct_spelling=True)
truth = [{
"hpid": ["HP:0001252"],
"index": [0, 9],
"matched": "Hypotonic"
}]
self.assertEqual(extract.hpo("Hyptonic").entries_sans_context, truth)
truth = []
extract = Extractor(correct_spelling=False)
self.assertEqual(extract.hpo("Hyptonic").entries_sans_context, truth)
truth = [
{
"hpid": ["HP:0002757"],
"index": [12, 30],
"matched": "multiple fractures"
},
{
"hpid": ["HP:0000938"],
"index": [35, 45],
"matched": "osteopenia"
},
]
self.assertEqual(
truth,
extract.hpo("Female with multiple fractures and osteopenia NA NA").
entries_sans_context)
truth = [{
"hpid": ["HP:0001156"],
"index": [30, 43],
"matched": "brachydactyly"
}]
self.assertEqual(
truth,
extract.hpo("Female with fourth metacarpal brachydactyly").
entries_sans_context)
extract = Extractor(correct_spelling=False, remove_overlapping=False)
truth = [
{
"hpid": ["HP:0000964"],
"index": [10, 16],
"matched": "eczema"
},
{
"hpid": ["HP:0000988"],
"index": [18, 27],
"matched": "skin rash"
},
{
"hpid": ["HP:0000988"],
"index": [23, 27],
"matched": "rash"
},
{
"hpid": ["HP:0008070"],
"index": [33, 44],
"matched": "sparse hair"
},
]
resp = extract.hpo("Male with eczema, skin rash, and sparse hair"
).entries_sans_context
self.assertEqual(truth, resp)
# Test extracting an abbreviated phenotype
truth = [{"hpid": ["HP:0001370"], "index": [0, 2], "matched": "RA"}]
self.assertEqual(extract.hpo("RA").entries_sans_context, truth)
# Test extracting multiple phenotypes
truth = [{
"hpid": ["HP:0001252"],
"index": [0, 9],
"matched": "Hypotonia"
}, {
"hpid": ["HP:0001263"],
"index": [11, 30],
"matched": "developmental delay"
}]
self.assertEqual(
extract.hpo("Hypotonia, developmental delay").entries_sans_context,
truth)
# Test term indexing given max length of extracted text
extract = Extractor(correct_spelling=False,
max_length=20,
chunk_by="max_length")
truth = [{
"hpid": ["HP:0001263"],
"index": [0, 19],
"matched": "Developmental delay"
}, {
"hpid": ["HP:0001252"],
"index": [21, 30],
"matched": "hypotonia"
}]
self.assertEqual(
extract.hpo("Developmental delay, hypotonia").entries_sans_context,
truth)